Out of touch: A rare disorder affects woman's sense of touch, pain

The pediatricians finally believed something was wrong the day 2-year-old Julie Malloy placed her hands on a hot wood stove and left them there.

The toddler, with a head of pale blond hair, didn't flinch or jerk her hands away. She didn't shriek.

Her mother panicked.

Jackie Stitt and other family members rushed to Julie's side, pulling her hands from the iron. The soft, red skin resembled slabs of raw meat.

At the hospital, Stitt tried, again, to tell the doctors something wasn't right with her daughter. Julie would bump herself, cut a finger accidentally or fall down and react with apathy. No whimpers, no tears.

She seemed to have little instinct for self-preservation.

"One Hanover pediatrician (had) said she just has a high tolerance to pain," Stitt recalled.

It was more serious than that. Julie felt nothing.

* * *

Physicians ultimately diagnosed Julie, now 28 and living in Manchester, with a rare form of congenital insensitivity to pain.

She has no sensation of touch, temperature, deep pressure or vibrations in her limbs and parts of her chest and back.

She does have sensation in her head and portions of her trunk. Julie's motor nerves work correctly. She can move her arms and legs and turn her head at will.

The disorder is caused by a gene mutation that disrupts the development of sensory nerve fibers - those that carry sensations such as touch, pain, temperature to the brain.

For Julie, the condition is as frustrating as it is isolating. Of all the senses, the sense of touch is what grounds us in our daily lives and connects us to our surroundings.

(DAILY RECORD / SUNDAY NEWS -- CARRIE HAMILTON)

Julie doesn't know the prick of dewy grass beneath the feet, the confidence of a firm handshake or the warmth of a Saturday morning snuggled beneath the covers. Buttoning a shirt is impossible, typing is laborious, and walking requires attention to each step. She's literally out of touch with the world.

It can be disorienting.

"In the dark, most people can feel where they're going or sense where they are," she said. "I can't."

Julie and others like her live in constant peril due to the absence of pain. A properly functioning pain network alerts people to dangers big and small. Without one, the body can't announce a hot saucepan, shoes that fit tightly, even appendicitis.

"I have never found a way to communicate to painless people the lessons that are taught so innately and compellingly by a healthy pain system," wrote the late Dr. Paul Brand about his patients with nerve damage due to leprosy.

Julie grew up stricken from gym class, soccer fields and basketball courts for fear she could twist an ankle or fracture a bone unawares.

She gave birth in December to a healthy baby boy, Landon, feeling no contractions throughout his delivery and only some back pain.

Her greatest nemesis is infection. When Julie cuts herself or her skin cracks, she takes three to four times as long to heal than the average person, in part because she lacks the nerves that assist in the healing process, her doctors say. Infection is common and worsens when ulcers (open sores) form on her fingers and reach soft tissue.

Many times, the infection has spread to the bone, making amputation necessary. Since age 9, Julie has lost the top segments of her fingers and thumbs to infection in sequential amputations - the most recent in 2007.

Her scarred and shortened fingers are the only visible sign of her disability, and one that makes her self-conscious. She hides her hands behind her back or in pockets when meeting new people.

"I want to avoid the stares," she said. "I want to feel people out before I have to explain everything."

Doctors still struggle to understand her condition, called hereditary sensory neuropathy type 2 (HSN2), a genetic disorder so rare that only 50 cases were reported in medical literature as of 2004.

Exact numbers are hard to come by, but that figure is still a good estimate, according to Dr. Felicia B. Axelrod, a professor of neurology and pediatrics at New York University Medical Center who maintains an international registry on this and related disorders. She knows of 44 cases of HSN2 worldwide.

Julie's is a recessive genetic disorder, which occurred when she inherited the same abnormal gene from each of her parents.

"The chances we both had the gene were, like, 1 in 99 million or something," said Stitt, who didn't know that she and Julie's father were carriers when they met and had two children. Julie's older brother, Jason, did not inherit the condition. (Julie's father, Tom Malloy, declined to be interviewed for this article.)

The symptoms are usually noticed when the baby teethes around 7 months. A painless infant bites his or her lips or mutilates the tongue with budding teeth. Because Julie has sensation in her face and head, she didn't do this.

Stitt's worries began later when her daughter didn't crawl or walk when she should have. An orthopedic specialist discovered she lacked muscle tone - later counted among the symptoms of HSN2. The specialist put the 18-month-old in leg braces, and she began walking soon after, Stitt said.

Julie spent all of elementary school in the braces, which strengthened her legs and might have prevented inadvertent injuries such as overstretching limbs.

Many patients with insensitivity to pain develop orthopedic issues over time, said Axelrod, the NYU neurologist. They can place too much pressure on bone joints since they lack subconscious signals from the brain telling them to shift position. Over time, joints deteriorate, and bone grinds against bone.

"He is the doctor who saved her life," she said. "He recognized, she's going to destroy herself if we didn't protect her."

* * *

That's when the rules began. Much to her dismay, Julie would require close monitoring to ensure she wouldn't hurt herself. No running, no bike riding and certainly no sports.

That's not what any kid wants to hear. She soon tired of the restrictions, resenting her doctors and her mom.

"I was overbearing," Stitt said. "I used to say, You know you're not supposed to be doing that. You know you can't. You'll hurt yourself. But as a child, she didn't feel anything. She didn't fear anything."

In school, Julie got questions from kids about why she sat out of gym and other activities. Some classmates treated her like a freak, testing her claims of painlessness by pinching or punching her in the arm.

"I'd feel the motion of my arm moving, but not the punch," she said.

Her frustration increased when, time after time, the doctors concluded amputation was the only way to eliminate the infections on her fingers. Her hand surgeon, Dr. Sanjiv Naidu, performed more than a dozen procedures between 1996 and 2007. No anesthesia was needed.

"What made me realize I was different was when other kids made fun of me," she said.

She missed weeks and months of school while in the hospital. She yearned to be normal kid - like her older brother who could do what he wanted. More than once, while her mom was at work, Julie sneaked out of the house to roller skate at a rink in West York.

"She came home with bruises all up and down her legs and sores because she fell," Stitt said.

Another time, Julie drew her own bath when no one else was home.

"I get this call at work, and she said, Mom, I'm taking a bath, and all the skin is off my feet," said Stitt, shaking her head at the memory.

At the hospital, doctors grafted healthy skin from her thigh onto her scalded feet. Julie didn't feel a thing.

* * *

When she bought a house five years ago, Julie had the hot-water heater turned down so she can't burn herself.

When drawing a bath for 6-month-old Landon, she waits on a thermometer inside his baby tub. Within moments, it displays a sad face when the water's too hot or happy face when it's just right.

Julie herself takes cold showers. She grasps a support bar when she closes her eyes to rinse her hair. She'll fall over otherwise.

Her lack of touch sensation can throw off her balance, and Julie uses her eyes to compensate. Her sight helps keep her oriented in space since she doesn't feel the floor below her feet. She looks down as she walks, consciously watching each step (especially in heels).

She must think through each step of each task of her day. For example, chopping potatoes for dinner:

"OK, I got to make sure I've got the knife in my hand. Now, I got to think, How am I holding it? What angle? How hard to press down on it? Where are my other fingers?" she said. "I gotta double-think everything."

She must also remember to visit the bathroom because she feels no urge to go. She estimates when based on how much she ate or drank. Accidents are rare, but she wears a pad just in case.

Doctors warned her parents Julie might never drive. She wouldn't feel the pedals at her feet. But she memorized the locations of the gas and brake. And she passed the driver's test.

She operates a car entirely by sight. Behind the wheel, she glances down for fractions of a second to find the blinker or wiper switch. She keeps extra car lengths between hers and the next vehicle in case her foot slips off the brake. Occasionally, she hits a pedal too hard.

"She's a little heavy on the brake sometimes," said Scott Eaton, an ex-boyfriend and Landon's father.

"I think I might need a neck brace," he added, jokingly.

* * *

There is no cure for HSN2. Over the years, Julie learned to protect her hands and feet against trauma. She never walks barefoot. A drawer in her kitchen brims with oven mitts.

Each night, she sits on the edge of her bed, removes a sock and pulls a foot up toward her. She examines the sole, between the toes, then the ankle and leg. She looks for bruises, cuts or abrasions. In the shower, she checks the rest of her body, using a mirror to see her backside after drying off.

This winter, she kept noticing mysterious bruises on her shins.

One day, she leaned into her sedan to put Landon in his car seat, dropped something and looked down. Her legs were pressed up against the edge of the car, apparently hard enough to bruise the skin.

Julie's unable to gauge the pressure or weight she puts on objects.

When passed a business card, her eyes fall to the outstretched hand. She can't be sure she has a grip on it unless she watches her fingers pinch the paper. Even then, she might misjudge and drop it.

She has difficulty gripping smooth objects. Drinking glasses and cardboard boxes slip out of her grasp. Fastening buttons requires too much work, and the tiny snaps on Landon's onesies take ages to close.

The stumps of her fingers are bulbous with scar tissue and hardened by calluses. Like the hardened soles of the feet, it's her body's reaction to the pounding they receive, Naidu said.

In therapy once, she tried on prosthetic, silicone fingertips that slipped on like sleeves. Giddy, she noted the fingernails she could paint.

Her insurance wouldn't cover them, and Julie couldn't afford them. She was devastated.

* * *

When she learned she was pregnant last year, Julie faced a new challenge.

She feared dropping the baby since she wouldn't feel him in her arms. She worried about twisting his limbs or failing to grasp the tiny tabs that hold a diaper together. She confessed her concerns to her mother, and they brainstormed ways she could adapt and make things work.

She shopped for baby clothes with zippers and Velcro and tested his bottle temperature by splashing milk onto her lips. She learns all the time.

She also feared passing her disorder onto Landon. A genetic counselor ran blood tests and determined the likelihood was slim that both she and Eaton would carry the genetic error.

"All I did was pray he developed correctly," Julie said.

She couldn't feel Landon in utero. An obstetrics team ran extra tests to monitor the fetus. The doctor induced her delivery in December for fear Julie would go into labor in the middle of the night and not know it.

Landon was born with all his senses intact. He's too young to understand his mother is missing one of hers, but as he gets older, Julie's hoping he'll have patience with her.

"I'm hoping he'll catch on to, you know, he's gotta help Mommy do stuff," she said.

Her routine is exhausting some days. Dropping things, spilling food and drink, tripping over baby toys would test anyone's patience.

"At some point, it gets to the point you don't want to deal with it," she said.

A few years ago, her doctor suggested an anti-depressant, and it's helped control her anxiety, she said.

Most days, Julie doesn't think about her limitations. She's become what she sought for so many years - a normal young woman. She's a working mother raising a baby and pursuing a career in marketing, working for her mother and stepfather's tradeshow exhibit business in York and going home at night to Landon.

She hasn't given up hope that a researcher some day will devise a way to stimulate growth of sensory nerves, although doctors consider such progress unlikely.

"I live with it, I move on. I don't dwell on it," she said.

mburke@ydr.com; 771-2024

Meet Jules

Name: Julie Malloy

Age: 28

Born in: Hanover

Lives in: Manchester

Family: Son Landon, 6 months

Education: West York Area High School (2000) and classes at YTI Career Institute

Occupation: Director of marketing, Exhibits By Promotion Centre in York

Life without the sense of touch

Hereditary sensory neuropathy type II is a rare condition affecting the nerves that serve the lower arms and hands and the lower legs and feet (the peripheral nerves) and sometimes the trunk. These patients often lack pain perception in these areas and have no protective reflexes.

Symptoms usually develop during infancy or childhood and include a loss of sensation affecting the skin and sometimes the muscles, tendons or joints; a loss of feeling in the arms and legs causing unsteady movement; and painless fractures of the limbs that may occur without the patient's awareness.

Infection is common and worsens when ulcers (open sores) form on the fingers or soles of the feet. With no sensation in the hands and feet, patients usually neglect the wounds or are unaware of them. If infection spreads to the bone, amputation is often necessary. Many patients lose segments of fingers or toes over time if care is not taken with such wounds.

The condition, also called congenital peripheral sensory neuropathy, is caused by a genetic mutation that disrupts the development of sensory nerve fibers that carry sensations such as touch, pain, temperature and vibration to the brain. It is a recessive genetic disorder, which occurs when an individual inherits the same abnormal gene from each parent.

There is no cure. Treatment focuses on teaching patients how to avoid self-injury, counseling on the need to constantly protect the hands and feet against trauma and prompt attention to cuts and other complications. A clustering of cases in eastern Canada has been reported.

Sources: National Organization for Rare Disorders, Orphanet Journal of Rare Diseases, WebMD and Drs. Than Vu and Sanjiv Naidu

Why we need pain

Americans swallow millions of aspirin and other painkillers a year, infrequently valuing the "gift" of pain.

The pain network is essential to good health - an early warning system alerting us of danger.

The pain reflex compels us to jerk our hand away from a hot object, prompt a limp if shoes fit too tightly or nudge us to shift position when pressure on a bone joint is too great.

Without pain signals, the body has no way to announce even internal abnormalities, such as stroke, heart attack or appendicitis.